This Panel is marked as Internal
Test MOI validation panel - do not edit
Gene: EBP
EBP (emopamil binding protein (sterol isomerase))
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000147155
EnsemblGeneIds (GRCh37): ENSG00000147155
OMIM: 300205, Gene2Phenotype
EBP is in 15 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- OMIM test - XLR but OMIM has XLD, XLR
- OMIM
- 300205
- Clinvar variants
- Variants in EBP
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Peroxisomal disorders
- Chondrodysplasia punctata
- Clefting
- Undiagnosed metabolic disorders
- Limb disorders
- Skeletal dysplasia
- Fetal hydrops
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
20 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ebp has been classified as Green List (High Evidence).
20 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: EBP was added gene: EBP was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EBP were set to OMIM test - XLR but OMIM has XLD, XLR